Article
Unraveling the physiological impact of ANGPTL8 loss-of-function variants in humans.
Scientific reports - 29 Apr 2026
Abadi Arkan, Chen Yan Q, Khalid Shareef, Williams Kylia, Zhen Eugene Y, Li Hongxia, Siegel Robert, Hartley Maryalice, Beyer Thomas Patrick, DeBowles Danisha, Qian Yue-Wei, Rahseed Asif, Khan Maleeha Zaman, Jahanzaib Muhammad, Mian Muhammad Rehan, Sultana Riffat, Jalal Anjum, Abbas Shahid, Muddassir Ambreen, Mohsin Saima Naz, Mukhtar Shahid, Mahmood Adil, Ryan Timothy P, Michael Laura F, Ruotolo Giacomo, Saleheen Danish, Wen Yi, Konrad Robert J, Bhatnagar Pallav
Abstract excerpt
Angiopoietin-like 8 (ANGPTL8) is a calorically responsive regulator of lipoprotein lipase (LPL). It does this by forming complexes with ANGPTL3 or ANGPTL4 that either inhibit LPL in oxidative tissues or preserve LPL activity in adipose tissue, respectively. Human heterozygous (reference allele/alternate allele, R/A) carriers of rs145464906/p.Q121X and rs760351239/p.Q131X ANGPTL8 protein truncating variants (PTVs)...
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